Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency

Karen M. Brookhyser, Mark H. Lipson, Ann B. Moser, Hugo W. Moser, Ralph S. Lachman, David L. Rimoin

Research output: Contribution to journalArticlepeer-review

Abstract

Current practices in prenatal diagnosis of rhizomelic chondrodysplasia punctata (RCDP) are reviewed. A case is presented with a family having one daughter affected with RCDP due to alkyldihydroacetonephosphate acyltransferase synthase (DHAPAT synthase) deficiency, and three subsequent pregnancies. Biochemical test values are presented for the pregnancies and daughter. Post-mortem tests of one fetus of a terminated pregnancy showed that radiologic examination could not make the diagnosis of RCDP. We conclude that biochemical or molecular testing is necessary to accurately diagnose this type of RCDP prenatally.

Original languageEnglish (US)
Pages (from-to)383-385
Number of pages3
JournalPrenatal Diagnosis
Volume19
Issue number4
DOIs
StatePublished - Apr 28 1999

Keywords

  • DHAPAT synthase deficiency
  • Dwarfism
  • Prenatal diagnosis
  • Rhizomelic chondrodysplasia punctata

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency'. Together they form a unique fingerprint.

Cite this